Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.F395L

FOXP3

634 papers

RefSeq Summary

The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, ...

Pfam Domains

FOXP-CCaa 193–261UCSCFOXP coiled-coil domain
Forkheadaa 336–418UCSCForkhead domain

Gene Aliases

HGNC Name

forkhead box P3

HGNC Previous Symbol

IPEX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014009.4
p.F395L
c.1185T>G
Surrounding Variants
1 paper
NM_014009.4
p.F395L
c.1185T>A
1 paper
NM_014009.4
p.V396L
c.1186G>T
1 paper
NM_014009.4
p.V396L
c.1186G>C
1 paper
NM_014009.4
p.F395L
c.1183T>C
2 papers
NM_014009.4
p.V396E
c.1187T>A
1 paper
NM_014009.4
p.C394Y
c.1181G>A
41 papers
NM_014009.4
p.R397W
c.1189C>T
1 paper
NM_014009.4
p.R397L
c.1190G>T
25 papers
NM_014009.4
p.R397Q
c.1190G>A
NM_001114377.2
p.R362Q
c.1085G>A
5 papers
NM_014009.4
p.K393M
c.1178A>T
1 paper
NM_014009.4
p.K393R
c.1178A>G
2 papers
NM_014009.4
p.R397_V398insFs
c.1191_1192insG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."